Canonical Allele Identifier: CA2573146101
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1423670
ClinVar RCV Id: RCV001929004
dbSNP Id: rs2135722265

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97599784del , CM000672.2:g.97599784del GRCh38
NC_000010.10:g.99359541del , CM000672.1:g.99359541del GRCh37
NC_000010.9:g.99349531del NCBI36
NG_027922.1:g.20440del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.573del MANE Select ENSP00000359680.4:p.Asn191LysfsTer5
ENST00000370646.8:c.573del ENSP00000359680.4:p.Asn191LysfsTer5
ENST00000370647.8:c.212-2073del ENSP00000359681.4:n.212-2073del
ENST00000370649.3:c.212-2073del ENSP00000359683.3:n.212-2073del
ENST00000465608.1:n.1417del
NM_001134670.1:c.212-2073del NP_001128142.1:n.212-2073del
NM_138413.3:c.573del NP_612422.2:p.Asn191LysfsTer5
NM_138413.4:c.573del MANE Select NP_612422.2:p.Asn191LysfsTer5
NM_001134670.2:c.212-2073del NP_001128142.1:n.212-2073del